Stefan Mundlos
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German physician and geneticist
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(Suggest an Edit or Addition)Stefan Mundlos's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Cbfa1, a Candidate Gene for Cleidocranial Dysplasia Syndrome, Is Essential for Osteoblast Differentiation and Bone Development (1997) (2895)
- Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia (1997) (1549)
- Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions (2015) (1530)
- The single cell transcriptional landscape of mammalian organogenesis (2019) (1522)
- The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. (2008) (821)
- The receptor tyrosine kinase Ror2 is involved in non‐canonical Wnt5a/JNK signalling pathway (2003) (761)
- Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision (2011) (665)
- A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo (2011) (634)
- Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13 (1996) (553)
- Formation of new chromatin domains determines pathogenicity of genomic duplications (2016) (509)
- Nosology and classification of genetic skeletal disorders: 2015 revision (2015) (488)
- Regulation of chondrocyte differentiation by Cbfa1 (1999) (464)
- Clinical diagnostics in human genetics with semantic similarity searches in ontologies. (2009) (438)
- Cleidocranial dysplasia: clinical and molecular genetics (1999) (397)
- Structural variation in the 3D genome (2018) (388)
- Nosology and classification of genetic skeletal disorders: 2019 revision (2019) (369)
- Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1 (2009) (362)
- Nuclear localization of the protein encoded by the Wilms' tumor gene WT1 in embryonic and adult tissues. (1993) (341)
- Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 (2008) (341)
- Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter (1991) (337)
- Breaking TADs: How Alterations of Chromatin Domains Result in Disease. (2016) (330)
- Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. (2004) (325)
- Plant nitric oxide synthase: a never-ending story? (2006) (318)
- Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. (2007) (310)
- Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome (2010) (301)
- Mutations in the RUNX2 gene in patients with cleidocranial dysplasia (2002) (288)
- A restricted spectrum of NRAS mutations causes Noonan syndrome (2010) (279)
- Mutations in WNT1 cause different forms of bone fragility. (2013) (235)
- Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations (2008) (231)
- Role of Runx genes in chondrocyte differentiation. (2002) (230)
- PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors. (1992) (229)
- Mutations in PYCR1 cause cutis laxa with progeroid features (2009) (228)
- Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome (2005) (224)
- Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome (2014) (221)
- Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. (1999) (210)
- Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. (1997) (205)
- Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. (2005) (205)
- The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization. (2009) (203)
- Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations (2006) (201)
- Heritable diseases of the skeleton. Part I: Molecular insights into skeletal development‐transcription factors and signaling pathways 1 (1997) (195)
- The organization of the osteocyte network mirrors the extracellular matrix orientation in bone. (2011) (190)
- Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome (2013) (190)
- Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation. (2009) (182)
- Functional dissection of the Sox9–Kcnj2 locus identifies nonessential and instructive roles of TAD architecture (2019) (175)
- Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. (2000) (171)
- Heritable diseases of the skeleton. Part II: Molecular insights into skeletal development‐matrix components and their homeostasis (1997) (171)
- Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2 (2003) (169)
- Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. (2004) (169)
- Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice. (2015) (166)
- Genetic disorders of the skeleton: a developmental approach. (2003) (164)
- Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts. (2011) (158)
- The other trinucleotide repeat: polyalanine expansion disorders. (2005) (158)
- Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect (1993) (155)
- Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. (2006) (154)
- Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions (2015) (150)
- Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. (2006) (146)
- Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin (2008) (143)
- A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. (2004) (143)
- Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. (2009) (142)
- Polymer physics predicts the effects of structural variants on chromatin architecture (2018) (142)
- PDE3A mutations cause autosomal dominant hypertension with brachydactyly (2015) (139)
- A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. (2005) (139)
- Sonic hedgehog is a survival factor for hypaxial muscles during mouse development. (2001) (136)
- Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options (2009) (135)
- Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. (2012) (134)
- Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family. (1995) (128)
- Deletions of chromosomal regulatory boundaries are associated with congenital disease (2014) (128)
- Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia (2001) (127)
- CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait (2009) (126)
- Multiple roles for neurofibromin in skeletal development and growth. (2007) (126)
- Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome (2004) (126)
- Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. (2008) (126)
- Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes (2003) (126)
- Identifying cis Elements for Spatiotemporal Control of Mammalian DNA Replication (2019) (126)
- International nomenclature and classification of the osteochondrodysplasias (1997) international working group on constitutional diseases of bone (1998) (125)
- Deletion and point mutations of PTHLH cause brachydactyly type E. (2010) (124)
- Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis (2018) (124)
- Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. (2001) (123)
- A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome (2008) (121)
- Regulatory Landscaping: How Enhancer-Promoter Communication Is Sculpted in 3D. (2019) (120)
- MicroRNAs Differentially Expressed in Postnatal Aortic Development Downregulate Elastin via 3′ UTR and Coding-Sequence Binding Sites (2011) (119)
- Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome) (2005) (119)
- SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome (2007) (119)
- A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. (2007) (116)
- Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. (2009) (113)
- Looking beyond the genes: the role of non-coding variants in human disease. (2016) (111)
- Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia (2009) (109)
- Modulation of GDF5/BRI‐b signalling through interaction with the tyrosine kinase receptor Ror2 (2004) (106)
- Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. (2012) (106)
- Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. (2011) (106)
- Arteries define the position of the thyroid gland during its developmental relocalisation (2006) (105)
- Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding (2017) (104)
- Polyalanine Expansion in Synpolydactyly Might Result from Unequal Crossing-Over of HOXD13 (1997) (104)
- Preformed chromatin topology assists transcriptional robustness of Shh during limb development (2019) (102)
- PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. (2013) (100)
- A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range (2009) (99)
- Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant. (2013) (99)
- Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. (2010) (96)
- Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. (2014) (95)
- Mutations in GDF5 Reveal a Key Residue Mediating BMP Inhibition by NOGGIN (2009) (94)
- Induction of Macrophage Chemotaxis by Aortic Extracts of the mgR Marfan Mouse Model and a GxxPG-Containing Fibrillin-1 Fragment (2006) (94)
- Distribution of osteonectin mRNA and protein during human embryonic and fetal development. (1992) (91)
- Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. (2011) (90)
- Redundant function of the heparan sulfate 6‐O‐endosulfatases Sulf1 and Sulf2 during skeletal development (2008) (89)
- L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes (2016) (88)
- Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model. (2007) (87)
- Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome* (2012) (86)
- Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes (2012) (84)
- Expression of Galectin-3 in Skeletal Tissues Is Controlled by Runx2* (2003) (84)
- Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations (2019) (84)
- Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation. (2010) (83)
- A COL2A1 Mutation in Achondrogenesis Type II Results in the Replacement of Type II Collagen by Type I and III Collagens in Cartilage (*) (1995) (83)
- The three-dimensional genome: regulating gene expression during pluripotency and development (2017) (82)
- A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies (2005) (81)
- Mouse clavicular development: Analysis of wild‐type and cleidocranial dysplasia mutant mice (1997) (80)
- A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. (2013) (79)
- Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion (2011) (79)
- RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: A potential factor in the pathogenesis of the Marfan syndrome (2004) (78)
- Molecular genetics of intestinal glucose transport. (1991) (77)
- Composition and dosage of a multipartite enhancer cluster control developmental expression of Indian hedgehog (2017) (77)
- Unblending of Transcriptional Condensates in Human Repeat Expansion Disease (2020) (76)
- Negative regulation of Wnt signaling mediated by CK1‐phosphorylated Dishevelled via Ror2 (2010) (73)
- Further characterization of ATP6V0A2-related autosomal recessive cutis laxa (2012) (73)
- Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. (2014) (72)
- Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A. (2014) (70)
- Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1 (2004) (70)
- Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy (2002) (70)
- Expression of Runx2 transcription factor in non‐skeletal tissues, sperm and brain (2008) (67)
- Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing (2011) (67)
- NOA1 is an essential GTPase required for mitochondrial protein synthesis (2011) (66)
- Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. (2020) (66)
- The brachydactylies: a molecular disease family (2009) (66)
- Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis (2017) (65)
- A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2 (2006) (65)
- Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis. (2008) (64)
- Brachydactyly type A2 associated with a defect in proGDF5 processing. (2008) (64)
- Evolution of a Core Gene Network for Skeletogenesis in Chordates (2008) (64)
- Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. (2015) (64)
- Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia (2010) (63)
- Copy-number variations, noncoding sequences, and human phenotypes. (2011) (61)
- Expression of Type XXIII Collagen mRNA and Protein* (2006) (61)
- Genetics of congenital hand anomalies. (2004) (61)
- Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma (2020) (60)
- Polytopic anomalies with agenesis of the lower vertebral column. (1999) (59)
- Mechanisms of digit formation: Human malformation syndromes tell the story (2011) (59)
- Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand (2018) (59)
- Wnt-ligand-dependent interaction of TAK1 (TGF-beta-activated kinase-1) with the receptor tyrosine kinase Ror2 modulates canonical Wnt-signalling. (2008) (58)
- Structural variations, the regulatory landscape of the genome and their alteration in human disease. (2013) (58)
- Neurofibromin (Nf1) is required for skeletal muscle development. (2011) (58)
- Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin (2008) (58)
- Multiexon Deletions in the Type I Collagen COL1A2 Gene in Osteogenesis Imperfecta Type (1996) (57)
- ecDNA hubs drive cooperative intermolecular oncogene expression (2020) (57)
- Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene (2008) (56)
- Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming region (2010) (56)
- An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. (2005) (56)
- MiR‐497∼195 Cluster MicroRNAs Regulate Osteoblast Differentiation by Targeting BMP Signaling (2015) (56)
- Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome (2014) (54)
- Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate (2006) (53)
- Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa (2020) (53)
- Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. (2013) (53)
- A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH (2007) (52)
- Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. (2004) (52)
- A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis. (2006) (52)
- Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings. (2011) (51)
- Monitoring enzyme replacement treatment in exocrine pancreatic insufficiency using the cholesteryl octanoate breath test. (1990) (51)
- Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p (2005) (51)
- Distribution of cartilage proteoglycan (aggrecan) core protein and link protein gene expression during human skeletal development. (1991) (51)
- Breakpoints around the HOXD cluster result in various limb malformations (2005) (50)
- Severe cleidocranial dysplasia can mimic hypophosphatasia (2002) (50)
- The role of sonic hedgehog in vertebrate development. (1997) (50)
- Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator (2021) (49)
- Developmental expression of human cartilage matrix protein (1994) (49)
- De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. (2017) (48)
- Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman (2008) (48)
- Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome (2014) (47)
- Omani‐type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3 (2009) (47)
- Mouse mutant “rib‐vertebrae” (rv): A defect in somite polarity (2000) (46)
- Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein (2010) (45)
- Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice (2016) (44)
- PEDIA: prioritization of exome data by image analysis (2018) (44)
- Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review (2003) (44)
- Noncoding copy-number variations are associated with congenital limb malformation (2017) (44)
- The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage elements (2002) (43)
- Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly (2012) (43)
- Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement (2004) (43)
- Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A (2012) (42)
- Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4 (2012) (42)
- The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process (2011) (42)
- The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization. (2020) (42)
- Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families (2005) (42)
- Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families (2014) (42)
- Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome (2006) (41)
- DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies (2015) (40)
- Three-dimensional chromatin in disease: What holds us together and what drives us apart? (2020) (40)
- Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene (2006) (40)
- Comparative expression pattern of Odd-skipped related genes Osr1 and Osr2 in chick embryonic development. (2006) (39)
- Odd-skipped related genes regulate differentiation of embryonic limb mesenchyme and bone marrow mesenchymal stromal cells. (2012) (38)
- A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. (2009) (38)
- Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis. (2004) (38)
- Expression patterns of matrix genes during human skeletal development. (1994) (37)
- Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type (2008) (37)
- Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2 (2018) (36)
- Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees (2013) (36)
- Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome (2016) (36)
- Exocrine Pancreatic Function in Oleic Acid‐Induced Pancreatic Insufficiency in Rats (1986) (36)
- First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature (2014) (36)
- Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. (2014) (36)
- Fetal and postnatal mouse bone tissue contains more calcium than is present in hydroxyapatite. (2011) (35)
- BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation (2017) (35)
- Distribution of type I and type II collagen gene expression during the development of human long bones. (1990) (35)
- VarFish: comprehensive DNA variant analysis for diagnostics and research (2020) (35)
- The mole genome reveals regulatory rearrangements associated with adaptive intersexuality (2020) (34)
- Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation (2004) (34)
- Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome (2005) (34)
- Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. (2014) (34)
- Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism (2018) (33)
- Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF (2016) (33)
- Acromesomelic dysplasia Maroteaux type maps to human chromosome 9. (1998) (33)
- Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica (2018) (33)
- A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2 (2005) (32)
- Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4 (2008) (31)
- GestaltMatcher facilitates rare disease matching using facial phenotype descriptors (2022) (31)
- Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q (2010) (31)
- Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome (2005) (31)
- Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. (1996) (30)
- A GDF5 Point Mutation Strikes Twice - Causing BDA1 and SYNS2 (2013) (30)
- Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: Parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia (2005) (30)
- Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia (2002) (30)
- Monozygotic Twins With Neurofibromatosis Type 1 (NF1) Display Differences in Methylation of NF1 Gene Promoter Elements, 5' Untranslated region, Exon and Intron 1 (2010) (30)
- Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome (2014) (30)
- HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing (2009) (29)
- Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations (2013) (29)
- The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome (2008) (29)
- [Effect of pellet size of a pancreas enzyme preparation on duodenal lipolytic activity]. (1991) (28)
- Expression patterns of sulfatase genes in the developing mouse embryo (2010) (28)
- Multiscale, Converging Defects of Macro-Porosity, Microstructure and Matrix Mineralization Impact Long Bone Fragility in NF1 (2014) (28)
- Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies (2021) (28)
- A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al‐Awadi/Raas‐Rothschild/Schinzel phocomelia syndrome (2010) (27)
- Promiscuous and Depolarization‐Induced Immediate‐Early Response Genes Are Induced by Mechanical Strain of Osteoblasts (2009) (27)
- GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. (2015) (27)
- Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis (2018) (26)
- Characterization of a human homologue of the Saccharomyces cerevisiae transcription factor spt3 (SUPT3H). (1998) (26)
- Deterioration of fracture healing in the mouse model of NF1 long bone dysplasia. (2012) (26)
- An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis. (1996) (26)
- Lgr5 and Col22a1 Mark Progenitor Cells in the Lineage toward Juvenile Articular Chondrocytes (2019) (26)
- Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1. (2013) (26)
- Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion (2013) (26)
- Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia. (1994) (25)
- Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman † (2005) (25)
- A novel 8 Mb interstitial deletion of chromosome 8p12‐p21.2 (2006) (25)
- Cleidocranial Dysplasia in Mice (1996) (25)
- High-throughput sequencing of microdissected chromosomal regions (2010) (24)
- Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation (2008) (23)
- Whole‐exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis (2013) (23)
- Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early‐Onset Osteoporosis (EOOP) (2020) (23)
- Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type (2015) (23)
- Classic and Atypical FOP Phenotypes are Caused by Mutations in the BMP Type I Receptor ACVR 1 (2011) (22)
- Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep (2006) (22)
- Long bone maturation is driven by pore closing: A quantitative tomography investigation of structural formation in young C57BL/6 mice. (2015) (22)
- Polycomb-mediated genome architecture enables long-range spreading of H3K27 methylation (2020) (22)
- Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family (2010) (22)
- The Genetic Basis of Moyamoya Disease (2021) (21)
- An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression (2005) (20)
- MIA is a potential biomarker for tumour load in neurofibromatosis type 1 (2011) (20)
- Genes and quadrupedal locomotion in humans (2008) (20)
- Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia (2008) (20)
- The LIM domain protein Wtip interacts with the receptor tyrosine kinase Ror2 and inhibits canonical Wnt signalling. (2009) (20)
- Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe (2013) (19)
- Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient (2014) (18)
- Endochondral ossification in vitro is influenced by mechanical bending. (2007) (18)
- A complex phenotype with cystic renal disease. (2006) (18)
- Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1. (2007) (17)
- An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature. (1996) (17)
- Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction (2017) (17)
- A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation (2016) (17)
- An overlapping phenotype of Osteogenesis imperfecta and Ehlers–Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing (2016) (17)
- Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice (2018) (16)
- H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome (2019) (16)
- A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia (2014) (16)
- Pathogenic Variants in GPC4 Cause Keipert Syndrome. (2019) (16)
- Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation (2018) (16)
- New methods for assessment of enzyme activity: do they help to optimize enzyme treatment? (1993) (15)
- Autosomal dominant spondylarthropathy due to a type II procollagen gene(COL2A1) point mutation (1994) (15)
- Czech dysplasia: Report of a large family and further delineation of the phenotype (2008) (15)
- Up-regulation of RUNX2 in acute myeloid leukemia in a patient with an inherent RUNX2 haploinsufficiency and cleidocranial dysplasia (2014) (15)
- Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms. (2017) (15)
- Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study (2020) (15)
- DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies (2015) (14)
- Development of the Limbs (2014) (14)
- A single amphioxus and sea urchin runt-gene suggests that runt-gene duplications occurred in early chordate evolution. (2003) (14)
- Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann–Laband syndrome (2007) (14)
- A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia (2017) (13)
- De Novo Mutations in SLC 25 A 24 Cause a Craniosynostosis Syndrome with Hypertrichosis , Progeroid Appearance , and Mitochondrial Dysfunction (13)
- Ehlers-Danlos syndrome type VII: phenotype and genotype (2004) (13)
- Summary PAX 8 , a human paired box gene : isolation and expression in developing thyroid , kidney and Wilms ’ tumors (1999) (13)
- Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. (2021) (13)
- Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia (2012) (13)
- Loss-of-function mutations in ATP 6 V 0 A 2 impair vesicular trafficking , tropoelastin secretion and cell survival (2009) (13)
- FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. (2015) (12)
- De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation. (2009) (12)
- FGF and ROR2 receptor tyrosine kinase signaling in human skeletal development. (2011) (12)
- Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24 (2008) (12)
- A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern (2017) (12)
- The face of Ulnar Mammary syndrome? (2011) (12)
- Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation (2018) (11)
- Distal and proximal cis-regulatory elements sense X-chromosomal dosage and developmental state at the Xist locus (2021) (11)
- The Cholesteryl Octanoate Breath Test: A New Procedure for Detection of Pancreatic Insufficiency in the Rat (1987) (11)
- Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient (2015) (11)
- Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement (2016) (10)
- Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2 (2002) (10)
- 3D or Not 3D: Shaping the Genome during Development. (2021) (10)
- Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome. (2015) (10)
- Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene (2011) (10)
- GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution (2019) (10)
- Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses. (2018) (10)
- Prevalence and prognostic significance of chromosome 21 amplifications in children with relapsed acute lymphoblastic leukemia: the ALL-REZ BFM study group (2010) (9)
- Missense variant in CCDC 22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel / 3 C syndrome (2014) (9)
- The Liebenberg syndrome: in depth analysis of the original family (2014) (9)
- Combining callers improves the detection of copy number variants from whole-genome sequencing (2021) (9)
- Genome sequencing in families with congenital limb malformations (2021) (9)
- A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data (2016) (9)
- Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models. (2014) (9)
- SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy (2019) (9)
- Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis. (2020) (9)
- Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C. (2014) (9)
- Functional dissection of TADs reveals non-essential and instructive roles in regulating gene expression (2019) (8)
- Neuroimaging and clinical characterization of Sotos syndrome. (2015) (8)
- Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes (2022) (8)
- Mutation analysis of BRCA 1 and BRCA 2 genes in Iranian high risk breast cancer families (2005) (8)
- The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface. (2016) (8)
- Relevant genetic variants are common in women with pregnancy and lactation-associated osteoporosis (PLO) and predispose to more severe clinical manifestations. (2021) (8)
- Defects of human skeletogenesis--models and mechanisms. (2001) (8)
- Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings (2019) (8)
- Alterations of BMP signaling pathway(s) in skeletal diseases (2008) (7)
- Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1 (2018) (7)
- Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia (2016) (7)
- Cleidocranial dysplasia in a mother and her two children. (2008) (7)
- Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome (2015) (7)
- Limb Malformations: An Atlas of Genetic Disorders of Limb Development (2014) (7)
- Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36 (2004) (7)
- Further characterization of ATP 6 V 0 A 2-related autosomal recessive cutis laxa (2012) (7)
- Cleidocranial dysplasia with a rare mutation: Study of a family with review of literature (2013) (7)
- A novel subtype of distal symphalangism affecting only the 4th finger (2009) (7)
- Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive (2021) (6)
- Genetic disorders of connective tissues (1991) (6)
- A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions (2020) (6)
- Enhancer hijacking determines intra- and extrachromosomal circular MYCN amplicon architecture in neuroblastoma (2019) (5)
- One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency (2021) (5)
- The Interdisciplinary Diagnosis of Rare Diseases-Results of the Translate-NAMSE Project. (2022) (5)
- Limb Malformations (2014) (5)
- An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation (2005) (5)
- Molecular Mechanisms of Tooth Development and Malformations (2004) (5)
- Advances in computer-assisted syndrome recognition and differentiation in a set of metabolic disorders (2017) (5)
- Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects (2012) (5)
- Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5. (2014) (5)
- A novel patient with Cooks syndrome supports splitting from “classic” brachydactyly type B (2007) (5)
- Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis (2018) (5)
- A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures. (2008) (5)
- Promoter repression and 3D-restructuring resolves divergent developmental gene expression in TADs (2021) (4)
- Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals. (2020) (4)
- Nosology of genetic skeletal disorders: 2023 revision (2023) (4)
- Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? (2015) (4)
- Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach. (2016) (4)
- A neonatally tolerant mouse model to assess pathogenicity of human autoantibodies. (1990) (4)
- A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa (2016) (4)
- Impairment of Sox9 expression in limb buds of rats homozygous for hypodactyly mutation. (2010) (4)
- A novel mutation in CDH11, encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome (2018) (4)
- Surgical Management Principles for Congenital Upper Limb Malformations (2014) (4)
- Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus (2021) (4)
- Brachydactyly type A1 with short humerus and associated skeletal features (2010) (4)
- GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors (2021) (4)
- The tale of FOP, NOGGIN and myristoylation: no data, no proof! (2008) (4)
- TADA—a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs (2022) (3)
- TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs (2020) (3)
- Corrigendum to “Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate” [FEBS Lett. 580 (2006) 455–462] (2007) (3)
- Sibs with a disorder resembling Blount disease (tibia vara) (2005) (3)
- Neuro fi bromin inactivation impairs osteocyte development in Nf 1 Prx 1 and Nf 1 Col 1 mouse models (2014) (3)
- Extension of the sheep sequence space using composite transcriptome assembly of RNA-Seq data in a sheep model for delayed bone healing (2011) (3)
- Mechanical strain of osteoblasts induces promiscuous and depolarization-induced immediate-early response genes (2009) (3)
- A GDF 5 Point Mutation Strikes Twice-Causing BDA 1 and SYNS 2 (2013) (3)
- Position effects at the FGF8 locus are associated with femoral hypoplasia. (2021) (3)
- High resolution 3D laboratory x-ray tomography data of femora from young, 1–14 day old C57BL/6 mice (2015) (3)
- Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders (2022) (3)
- Normal trabecular vertebral bone is formed via rapid transformation of mineralized spicules: A high-resolution 3D ex-vivo murine study. (2019) (3)
- LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions (2022) (3)
- PEDIA: prioritization of exome data by image analysis (2019) (3)
- Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases (2020) (3)
- What can go wrong in the non-coding genome and how to interpret whole genome sequencing data (2021) (3)
- GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C‐terminal third (2021) (2)
- Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome) (2022) (2)
- Response to Peron et al. (2018) (2)
- Al-Awadi/Raas–Rothschild/Schinzel Phocomelia Syndrome (2014) (2)
- Identification of cis elements for spatio-temporal control of DNA replication (2018) (2)
- Amnion Rupture Sequence (2014) (2)
- Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa (2020) (2)
- Neurofibromin (Nf1) is required for skeletal muscle development (2011) (2)
- Detection of Hepatitis B Virus DNA in the Liver of Children with Chronic Hepatitis B by In Situ Hybridization and Its Relation to Other Viral Markers (1992) (2)
- Multiple Pterygium Syndrome, Escobar Variant (2014) (2)
- Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a novel RAB-6 interacting golgin (2009) (2)
- Jumping retroviruses nudge TADs apart (2019) (2)
- Integration of Hi-C and Nanopore Sequencing for Structural Variant Analysis in AML with a Complex Karyotype: (Chromothripsis)² (2020) (2)
- CRISPR-derived mouse model of North Carolina Macular Dystrophy reveals in trans tissue-specific upregulation of PRDM13 (2018) (1)
- Cell adhesion and immune response, two main functions altered in the transcriptome of seasonally regressed testes of two mammalian species (2022) (1)
- Strategies to improve the performance of rare variant association studies by optimizing the selection of controls (2015) (1)
- Deletions of chromosomal regulatory boundaries are associated with congenital disease (2014) (1)
- Cell adhesion and immune response, two main functions altered in the transcriptome of seasonally regressed testes of two mammalian species. (2022) (1)
- Parallel sequencing of extrachromosomal circular DNAs and transcriptomes in single cancer cells. (2023) (1)
- Pallister–Hall Syndrome (2014) (1)
- Mutations in the a2-subunit of the v-type H+-ATPase impair Golgi function and cause a novel congenital disorder of glycosylation with cutix laxa (2008) (1)
- Split hand/foot malformation associated with 20p12.1 deletion: A case report. (2019) (1)
- Brachydactyly type A1 (2020) (1)
- Somatic neuro fi bromatosis type 1 ( NF 1 ) inactivation events in cutaneous neuro fi bromas of a single NF 1 patient (2014) (1)
- Failure of digit tip regeneration in the absence of Lmx1b suggests Lmx1b functions disparate from dorsoventral polarity (2022) (1)
- Grebe Dysplasia; Hunter–Thompson Dysplasia; Du Pan Dysplasia; Chondrodysplasia, Acromesomelic, BMPR1B Type (2014) (1)
- Monitoring of Enzyme Substitution Using the Cholesteryl Octanoate Breath Test (1991) (1)
- Mineral deposition and growth during embryonal bone development in mice (2009) (1)
- The role of hox genes in limb development and bone formation (2011) (1)
- Femur–Fibula–Ulna Syndrome (2014) (1)
- Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes (2022) (1)
- Aberrant phase separation and nucleolar dysfunction in rare genetic diseases (2023) (1)
- [Osteoimmunology-IMMUNOBONE : Regulation of bone by inflammation]. (2018) (1)
- Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3 (2022) (1)
- G6PC3 Deficiency Associated with Congenital Neutropenia and Enterocolitis (2011) (1)
- Multiple roles for neurofibromin in skeletal development and growth (1)
- Osteoporosis in gerodermia osteodysplastica is due to osteoblast impairment (2012) (1)
- Acrodysostosis, With or Without Hormone Resistance (2014) (1)
- Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts Short title: GENETIC ANOMALIES IN MSCs OF MDS/AML PATIENTS (2011) (1)
- Identification of a Novel Missense Mutation in EDAR Causing Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Bilateral Amastia and Palmoplantar Hyperkeratosis (2012) (1)
- TADA—a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs (2022) (1)
- Split Hand/Foot Malformation with Long Bone Deficiency (SHFLD) (2014) (1)
- GENE-15. TARGETING OF EPENDYMOMA AS INFORMED BY ONCOGENIC 3D GENOME ORGANIZATION (2019) (0)
- Specific skeletal dysplasias due to type II procollagen gene (COL2A1) defects (1994) (0)
- Combining callers improves the detection of copy number variants from whole-genome sequencing (2021) (0)
- Freeman–Sheldon Syndrome (2014) (0)
- Short Rib-Polydactyly Syndromes (2014) (0)
- Léri–Weill Dyschondrosteosis; Mesomelic Dysplasia, Langer Type (2014) (0)
- chromosome 17p in humans as a recessive trait mapping to Cerebellar hypoplasia and quadrupedal locomotion (2007) (0)
- Syndromic cardiac disorder is associated with a non-coding deletion that induces a 3D chromatin remodeling and PITX2 expression dysregulation (2022) (0)
- 1-14-2019 GOPHER : Generator Of Probes for capture HiC Experiments at high Resolution (2019) (0)
- IOF Regionals ANZBMS Annual Scientific Meeting, held with the JSBMR 2nd Asia-Pacific Osteoporosis and Bone Meeting (2011) (0)
- Enhancer hijacking on the MYCN amplicon in neuroblastoma (2020) (0)
- LRFN5 locus structure is influenced by the individual’s sex and associated with autism (2021) (0)
- Hand-Foot-Genital Syndrome (2014) (0)
- GDF5 is associated with a variety of skeletal malformations due to gain or loss of function mutations (2012) (0)
- Syndactyly Type Haas (2014) (0)
- Mesomelic Dysplasia, Werner Type (2014) (0)
- ESPE2004 2-Content 3rd proof.qxd (2004) (0)
- PTHLH deletion and point mutations are associated with Brachydactyly type E (BDE) (2010) (0)
- Fracture healing in the mouse — The NF1flox/floxPrx1Cre mouse as a pseudarthrosis model in neurofibromatosis 1 (2009) (0)
- SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy (2019) (0)
- Osteoimmunologie – IMMUNOBONE (2018) (0)
- Clinical Assessment and Anthropometry of the Limbs (2014) (0)
- Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study (Preprint) (2020) (0)
- Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations (2019) (0)
- BMP9 and Fluid Shear Stress Regulate Endothelial Chromatin Accessibility and Expression of SMAD Low Affinity Target Genes (2022) (0)
- Variability in the length of the polyalanine (PA) tract of SOX3 in patients with congenital hypopituitarism is associated with variable functional and phenotypic effects (2009) (0)
- Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy (2019) (0)
- University of Groningen Recurrent De Novo Mutations Affecting Residue Arg1 38 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa Fischer-Zirnsak, (0)
- Skeletal Dysplasias: Defects in Skeletal Morphogenesis (2003) (0)
- Adams–Oliver Syndrome (2014) (0)
- Fracture healing in the NF1flox/Floxprx1cre mouse – perception into pseudarthrosis in neurofibromatosis 1 (2010) (0)
- NOG and Proximal Symphalangism (SYM1), Multiple Synostosis (SYN1), Tarsal-Carpal Coalition, and Isolated Stapes Ankylosis (2016) (0)
- GENE-02. CHROMOSOME CONFORMATION ANALYSIS OF EPENDYMOMA IDENTIFIES PUTATIVE TUMOR DEPENDENCY GENES ACTIVATED BY DISTAL ONCOGENIC ENHANCERS (2019) (0)
- Baller–Gerold Syndrome (2014) (0)
- Gene Action: Developmental Genetics (2010) (0)
- Truncated α1(X) chains retaining NC1 domain sequences for chain association but lacking seqeunces for stabilization of type X collagen trimers produce Schmid metaphyseal chondrodysplasia (1996) (0)
- BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation (2017) (0)
- Genetics and population analysis A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data (2016) (0)
- Developmental Expression of Matrix Protein (1994) (0)
- Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2 (2005) (0)
- and**DepartmentofPharmacologyandToxicology,ErnestMarioSchoolofPharmacyandtheEnvironmentalandOccupational HealthSciencesInstitute,RutgersUniversity,Piscataway,NewJersey08854 (2006) (0)
- The single-cell transcriptional landscape of mammalian organogenesis (2019) (0)
- Oro-Facial-Digital Syndrome, Type 1 (2014) (0)
- Further characterization of ATP6V0A2-related autosomal recessive cutis laxa (2012) (0)
- Clinical Exome/Genome Reports‐Announcement (2015) (0)
- Temtamy preaxial brachydactyly syndrome (2020) (0)
- EPEN-04. ONCOGENIC 3D TUMOR GENOME ORGANIZATION IDENTIFIES NEW THERAPEUTIC TARGETS IN EPENDYMOMA (2020) (0)
- PIGT mutation and a somatic mutation in A case of paroxysmal nocturnal hemoglobinuria caused by a germline (2013) (0)
- Immunoglobulin receptor evolution in follicular lymphoma and a review of literature (2007) (0)
- Metacarpal 4–5 Fusion Syndrome (2014) (0)
- Ectodermal Dysplasia–Syndactyly Syndrome (2014) (0)
- Thrombocytopenia-Absent Radius Syndrome (2014) (0)
- VarFish - Collaborative and Comprehensive Variant Analysis for Diagnosis and Research (2020) (0)
- Triphalangeal Thumb-Polydactyly Syndrome (2014) (0)
- Mutants of growth factors with enhanced biological activity. (2006) (0)
- VarFish-Comprehensive Variant Analysis for Diagnosis and Research (0)
- Femoral-Facial Syndrome (2014) (0)
- EPEN-18. Oncogenic 3D genome conformations identify novel therapeutic targets in ependymoma (2020) (0)
- Small Patella Syndrome (2014) (0)
- Craniosynostosis, Philadelphia type (2020) (0)
- GestaltMatcher facilitates rare disease matching using facial phenotype descriptors (2022) (0)
- Polymer physics predicts the effects of structural variants on chromatin architecture (2018) (0)
- Gollop–Wolfgang Complex (2014) (0)
- Non-Mendelian inheritance in split-hand/foot malformation associated with CNVs on chromosome 17p (2011) (0)
- The Abrogated Thrombopoietin (TPO) Signal Transduction In Pediatric Patients Suffering From Thrombocytopenia-Absent Radii Syndrome Is Restored In Adult Patients, Suggesting An Additional, c-Mpl-Jak2-Independent Mechanism for Platelet Biogenesis. (2010) (0)
- Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features. (2022) (0)
- Deficiency of Long Bones with Clubfoot and Mirror-Image Polydactyly (2014) (0)
- Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features (2022) (0)
- EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report. (2012) (0)
- Tibia and humerus bowing in a mouse model for neurofibromatosis type 1 (2008) (0)
- Townes–Brocks Syndrome (2014) (0)
- Ulnar-Mammary Syndrome (2014) (0)
- Acute Lymphoblastic Leukemia in a Case of Ring Chromosome (2008) (0)
- Smith–Lemli–Opitz Syndrome (2014) (0)
- Identification of potential regulatory elements in Capture-C interaction profiles (2015) (0)
- Genée–Wiedemann Syndrome (2014) (0)
- European School of Genetic Medicine 3 rd Course in Next Generation Sequencing (2014) (0)
- Terminal Transverse Defect (2014) (0)
- Antley–Bixler Syndrome With/Without Genital Anomalies or Disordered Steroidogenesis (2014) (0)
- Response to Peron et al. (2018) (0)
- Split Hand/Foot Malformation (SHFM), Syndromic, p63 Associated (2014) (0)
- Brachydactyly Type E; Brachydactyly Type D (2014) (0)
- Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to the development of osteoarthritis (2020) (0)
- Enchondromatosis, Ollier Type (2014) (0)
- Role of IHH signaling in the progression of joint formation in digit development (2010) (0)
- Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis (2018) (0)
- Full-field characterisation of mechanical strain in the Flexercell and stimulation optimization study (2006) (0)
- Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation (2023) (0)
- 145 Multifunction Role of Osteonectin/SPARC during Human embryonic and Feta Development (1991) (0)
- Chondrogenesis and Pattering (2010) (0)
- Albright Hereditary Osteodystrophy (2014) (0)
- P4: Ulnar-mammary syndrome with mental retardation caused by a novel 0.8 Mb deletion encompassing the TBX3 gene (2005) (0)
- GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution (2019) (0)
- The Genetic Basis of Moyamoya Disease (2021) (0)
- Long bone fragility in NF1 is due to deficiency of architecture, micro-structure and matrix mineralization (2013) (0)
- Syndactyly Type Lueken (2014) (0)
- Identification of a functional variant in CHST3 associated with the susceptibility for lumbar disc degeneration (2012) (0)
- Differentiation and progression of interzone cells as progenitors of articular chondrocytes in joint formaiton (2012) (0)
- Release of Alkaline Phosphatase Caused by PIGV Mutations In Patients with Hyperphosphatasia-Mental Retardation Syndrome (HPMR), a Recently Found Second Inherited GPI Anchor Deficiency. (2010) (0)
- Ellis–Van Creveld Syndrome (2014) (0)
- 3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma (2023) (0)
- A Novel BACH2-BCL2L1 Fusion Gene in the Burkitt’s Lymphoma Derived Cell Line BLUE-1 (2008) (0)
- TGF-β induced senescence is a novel therapeutic target for treating osteoporosis in Gerodermia Osteodysplastica (2020) (0)
- Simultaneous testing of rule- and model-based approaches for runs of homozygosity detection opens up a window into genomic footprints of selection in pigs (2022) (0)
- The organization of the osteocyte network in bone and potential mechanisms of passive mineral dissolution (2011) (0)
- Structural variation in the 3D genome (2018) (0)
- Rubinstein–Taybi Syndrome (2014) (0)
- Key Point : A carrier of a deleterious splice site mutation in PIGT acquired a second hit in PIGT and developed PNH (2013) (0)
- Symphalangism; Multiple Synostoses Syndrome; Tarsal/Carpal Coalition Syndrome; Teunissen–Cremers Syndrome (2014) (0)
- Array CGH-based Identification of Aberrations in Patients with complex Phenotypes and Heart Defects (2011) (0)
- Mutations in Pycr1 cause progeroid changes in skin and bone due to reduced mitochondrial stress resistance (2010) (0)
- Tetra-Amelia, Peromelia (2014) (0)
- A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies (2022) (0)
- Holt–Oram Syndrome (2014) (0)
- Catel–Manzke Syndrome (2014) (0)
- Impairment of Sox 9 Expression in Limb Buds of Rats Homozygous for Hypodactyly Mutation ( limb development / hypodactyly / Sox 9 / Bmp signaling / the Norway rat ) (2010) (0)
- Molecular genetics of WarburgMicro syndrome (microphthalmia, cataract, microcephaly and micropenis) (2005) (0)
- Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation (2018) (0)
- Focal Dermal Hypoplasia (2014) (0)
- Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis (2018) (0)
- Simultaneous testing of rule- and model-based approaches for runs of homozygosity detection opens up a window into genomic footprints of selection in pigs (2022) (0)
- Incomplete transcriptional dosage compensation of vertebrate sex chromosomes is balanced by post-transcriptional compensation (2023) (0)
- Radiology of the Limb (2014) (0)
- Split Hand/Foot Malformation (SHFM) (2014) (0)
- Nail–Patella Syndrome (2014) (0)
- Brachydactyly-Hypertension Syndrome (2014) (0)
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What Schools Are Affiliated With Stefan Mundlos?
Stefan Mundlos is affiliated with the following schools:
